Associated Papers
Clinical and Genetic Characteristics of Paroxysmal Kinesigenic Dyskinesia: A Single-Center Study and Literature Review.
Li M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2026
Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia.
Huang X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.
Lo J et al.
Frontiers in Physiology, 2022
Perspectives on the basis of seizure-induced respiratory dysfunction.
Mulkey DK et al.
Frontiers in Neural Circuits, 2022
Potassium channels and autism spectrum disorder: An overview.
Cheng P et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study.
Cucchiara F et al.
Sleep, 2020
Role of Astrocytic Inwardly Rectifying Potassium (Kir) 4.1 Channels in Epileptogenesis.
Kinboshi M et al.
Frontiers in Neurology, 2020
Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.
Nadella RK et al.
Human Genomics, 2019
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
Celmina M et al.
Clinical Genetics, 2019
Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.
Niday Z et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2018
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.
Sicca F et al.
Scientific Reports, 2016
Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
Proverbio MC et al.
Plos One, 2013